Variant report

Variant	nsv524477
Chromosome Location	chr16:81359467-81362134
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:81303770..81306348-chr16:81361148..81363746,2	MCF-7	breast:
2	chr16:81309908..81312373-chr16:81359644..81361455,2	MCF-7	breast:
3	chr16:81307371..81310396-chr16:81356696..81360378,4	MCF-7	breast:
4	chr16:81298425..81302121-chr16:81361527..81366002,4	MCF-7	breast:
5	chr16:81069397..81071026-chr16:81361127..81363315,2	MCF-7	breast:
6	chr16:81359720..81362731-chr16:81363327..81365918,3	MCF-7	breast:
7	chr16:81358702..81362075-chr16:81365943..81367712,3	K562	blood:
8	chr16:81357398..81359804-chr16:81378365..81379960,2	MCF-7	breast:
9	chr16:81311019..81313115-chr16:81360048..81362169,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000166454	chromatin interactions

Extended variants
information (count: 147 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:147 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16955031	chr16:81359467-81359468	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs559299342	chr16:81359535-81359536	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs150977559	chr16:81359538-81359539	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs78809333	chr16:81359544-81359545	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs566155472	chr16:81359572-81359573	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs185207402	chr16:81359599-81359600	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs555280312	chr16:81359612-81359613	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs567078008	chr16:81359641-81359642	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs9934557	chr16:81359653-81359654	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs191050848	chr16:81359671-81359672	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs183254384	chr16:81359695-81359696	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs571333940	chr16:81359708-81359709	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs374632041	chr16:81359713-81359714	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs187660468	chr16:81359715-81359716	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs191578160	chr16:81359719-81359720	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs540926559	chr16:81359762-81359763	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs562370296	chr16:81359765-81359766	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs148859908	chr16:81359800-81359801	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs117052819	chr16:81359806-81359807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs2216768	chr16:81359825-81359826	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs527914040	chr16:81359842-81359843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs562412411	chr16:81359846-81359847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs7499639	chr16:81359848-81359849	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs551220644	chr16:81359872-81359873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs141096650	chr16:81359877-81359878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs527296548	chr16:81359899-81359900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs146935863	chr16:81359902-81359903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs36170362	chr16:81359967-81359968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs66769713	chr16:81359969-81359970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs74739998	chr16:81359988-81359989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs62047165	chr16:81359990-81359991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs537618080	chr16:81359993-81359994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs139366307	chr16:81360010-81360011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs376560079	chr16:81360052-81360053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs78135599	chr16:81360055-81360056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs556093087	chr16:81360062-81360063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs556302542	chr16:81360063-81360064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs571387702	chr16:81360069-81360070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs539914400	chr16:81360070-81360071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs79912096	chr16:81360073-81360074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs533514972	chr16:81360078-81360079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs11646152	chr16:81360082-81360083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs534192740	chr16:81360095-81360096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs149635364	chr16:81360096-81360097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs574296635	chr16:81360103-81360104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs9934395	chr16:81360148-81360149	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs34512010	chr16:81360149-81360150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs113066214	chr16:81360162-81360163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs148348916	chr16:81360208-81360209	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs544698552	chr16:81360227-81360228	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16702952	CNVD
Medulloblastoma	16968546	CNVD
Prostate cancer	19242612	CNVD
Cancer	22429812	CNVD
Ewing''s sarcoma	21437220	CNVD
Ewing''s sarcoma	22429812	CNVD
Melanoma	18172304	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Multiple myeloma	21628407	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	17245344	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Neuroblastoma	18923524	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Obesity	20622171	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	22228453	CNVD

Chromatin state (count:134 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81349800-81365800	Weak transcription	Aorta	Aorta
2	chr16:81350000-81361400	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr16:81350000-81361600	Weak transcription	Primary B cells from peripheral blood	blood
4	chr16:81350000-81364800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr16:81350000-81365800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr16:81350000-81371200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr16:81350000-81372000	Weak transcription	Primary B cells from cord blood	blood
8	chr16:81350000-81373200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr16:81350000-81375000	Weak transcription	Fetal Intestine Large	intestine
10	chr16:81350400-81367600	Weak transcription	Duodenum Mucosa	Duodenum
11	chr16:81350400-81370400	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr16:81350400-81373200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr16:81350600-81363000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr16:81350600-81367600	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr16:81350600-81372800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr16:81350800-81365800	Weak transcription	Fetal Brain Male	brain
17	chr16:81351200-81369800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr16:81351400-81368800	Weak transcription	Dnd41	blood
19	chr16:81351400-81371200	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr16:81352600-81362800	Weak transcription	Gastric	stomach
21	chr16:81352800-81366000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr16:81352800-81367400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr16:81353200-81367800	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr16:81353400-81373200	Weak transcription	HUVEC	blood vessel
25	chr16:81353400-81390400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr16:81353600-81366200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr16:81353800-81372600	Weak transcription	A549	lung
28	chr16:81354000-81360200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr16:81354000-81360400	Weak transcription	Psoas Muscle	Psoas
30	chr16:81354000-81361800	Weak transcription	HSMMtube	muscle
31	chr16:81354000-81364600	Weak transcription	Small Intestine	intestine
32	chr16:81354000-81371400	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr16:81354200-81359600	Weak transcription	NHLF	lung
34	chr16:81354200-81391600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr16:81354400-81372800	Weak transcription	HSMM	muscle
36	chr16:81354600-81361000	Weak transcription	Stomach Mucosa	stomach
37	chr16:81354600-81361800	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr16:81355600-81371600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr16:81355800-81362400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr16:81357400-81359800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr16:81357400-81360800	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr16:81357800-81361600	Enhancers	Brain Anterior Caudate	brain
43	chr16:81357800-81375800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr16:81358200-81360400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr16:81358400-81360200	Weak transcription	Primary T cells from cord blood	blood
46	chr16:81358600-81360200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr16:81358600-81360200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr16:81358600-81360200	Weak transcription	Brain Angular Gyrus	brain
49	chr16:81358600-81360200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr16:81358600-81362800	Weak transcription	Left Ventricle	heart

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